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Genes|September 28, 2024
Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS CohortIvan Tourtourikov, Tihomir Todorov, Teodor Angelov, et al.
The International Journal of Neuroscience|August 30, 2017
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL geneMaria Glushkova, Petia Dimova, Iglika Yordanova, et al.
Neuromuscular Disorders : NMD|July 26, 2008
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patientsAlbena Todorova, Tihomir Todorov, Bilyana Georgieva, et al.
Medicine and Pharmacy Reports|September 16, 2021
Screening for hereditary transthyretin amyloidosis in BulgariaRadislav Nakov, Ventsislav Nakov, Mariana Gospodinova, et al.
Frontiers in Pediatrics|February 8, 2018
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor RetardationIliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, et al.
Journal of Child Neurology|March 2, 2013
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birthIvan Litvinenko, Andrey Ventsislavov Kirov, Ralitsa Georgieva, et al.
Journal of Clinical Medicine|June 26, 2026
Some CYP21A2 Polymorphisms in the Exon 7 Region Might Be Associated with Cortisol Secretion in Polycystic Ovary SyndromeRalitsa Robeva, Silvia Andonova, Georgi Kirilov, et al.
Medicine|March 17, 2020
Fecal calprotectin levels are elevated in transthyretin amyloidosis patients with gastrointestinal manifestationsRadislav Nakov, Stayko Sarafov, Ventsislav Nakov, et al.
Journal of Gastrointestinal and Liver Diseases : JGLD|September 14, 2019
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case ReportRadislav Nakov, Stayko Sarafov, Ventsislav Nakov, et al.
Neuromuscular Disorders : NMD|September 12, 2016
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regionsSavina Tincheva, Bilyana Georgieva, Tihomir Todorov, et al.
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